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Related Concept Videos

Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Phosphorylation01:02

Phosphorylation

The addition or removal of phosphate groups from proteins is the most common chemical modification that regulates cellular processes. These modifications can affect the structure, activity, stability, and localization of proteins within cells as well as their interactions with other proteins.
During phosphorylation, protein kinases transfer the terminal phosphate group of ATP to specific amino acid side chains of substrate proteins. Serine, threonine, and tyrosine are the most commonly...
Phosphorylation01:02

Phosphorylation

The addition or removal of phosphate groups from proteins is the most common chemical modification that regulates cellular processes. These modifications can affect the structure, activity, stability, and localization of proteins within cells as well as their interactions with other proteins.
During phosphorylation, protein kinases transfer the terminal phosphate group of ATP to specific amino acid side chains of substrate proteins. Serine, threonine, and tyrosine are the most commonly...
Roles of Electrolytes: Calcium and Phosphate01:27

Roles of Electrolytes: Calcium and Phosphate

Calcium and phosphate are essential electrolytes in the human body, with calcium being the most abundant mineral. Around 99% of the body's calcium is stored in the skeleton and teeth, forming a crystal lattice of mineral salts in combination with phosphates. Calcium plays crucial roles in various bodily functions such as blood clotting, neurotransmitter release, muscle tone maintenance, and nervous and muscle tissue excitability.
The calcium concentration in blood plasma is primarily regulated...
What is the Skeletal System?01:02

What is the Skeletal System?

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Utility of genetic testing for prenatal presentations of hypophosphatasia.

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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

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Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

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Related Experiment Video

Updated: Jul 6, 2026

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors
08:45

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors

Published on: July 17, 2020

Hypophosphatasia.

Etienne Mornet1

  • 1Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean-Louis Forain, 78150 Le Chesnay, France. etienne.mornet@cytogene.uvsq.fr

Best Practice & Research. Clinical Rheumatology
|March 11, 2008
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia is a rare genetic disorder affecting bone and tooth mineralization due to alkaline phosphatase deficiency. Research advances understanding of its causes and effects, though no treatment currently exists.

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Last Updated: Jul 6, 2026

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08:45

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Published on: July 17, 2020

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08:42

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Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis
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Published on: June 24, 2018

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic bone disease.
  • It is characterized by defective bone and tooth mineralization and low serum/bone alkaline phosphatase activity.
  • HPP exhibits variable clinical severity, from stillbirth to mild symptoms like premature tooth loss.

Purpose of the Study:

  • To review the current understanding of hypophosphatasia.
  • To highlight recent advancements in the knowledge of tissue non-specific alkaline phosphatase (TNSALP).
  • To discuss the impact of ALPL gene mutations on HPP pathogenesis.

Main Methods:

  • Literature review of hypophosphatasia research.
  • Analysis of studies on TNSALP structure and function.
  • Examination of ALPL mutation data in HPP patients.

Main Results:

  • HPP affects bone and tooth mineralization due to deficient alkaline phosphatase.
  • Disease frequency is estimated at 1 in 100,000 for severe forms, with milder forms potentially more common.
  • Genetic basis involves mutations in the ALPL gene, with varied inheritance patterns.

Conclusions:

  • Significant progress has been made in understanding HPP pathophysiology over the last decade.
  • Understanding TNSALP structure, function, and the impact of ALPL mutations is crucial.
  • Current therapeutic options for hypophosphatasia are limited, underscoring the need for further research.